Campomelia Cumming Type Latest Advances
Find the Latest Research About Campomelia Cumming Type
Last Updated: 06/30/2026
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Found 326 publications
A Campomelic Dysplasia A76E Mutation in Sox9 Destabilizes Protein and DNA Binding Dynamics.
Journal: Biomolecules
Published: March 14, 2026
SOX9: dosage- and context-dependent functions in pancreatic development and β-cell biology.
Journal: Cell communication and signaling : CCS
Published: February 10, 2026
Spatiotemporal Regulation and Lineage Specification in Embryonic Endochondral Ossification.
Journal: International journal of molecular sciences
Published: December 08, 2025
SOX9 gene anomalies and campomelic / acampomelic campomelic dysplasia: case report and literature review.
Journal: Frontiers in genetics
Published: November 26, 2025
Role of SoxE transcription factors in development and disease.
Journal: Developmental dynamics : an official publication of the American Association of Anatomists
Published: October 14, 2025
Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.
Journal: Journal of clinical research in pediatric endocrinology
Published: June 10, 2025
Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: May 15, 2025
Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.
Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.
Journal: Orphanet journal of rare diseases
Published: April 07, 2025
Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 24, 2025
Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.
Journal: The Annals of otology, rhinology, and laryngology
Published: October 15, 2024
Last Updated: 06/30/2026